Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). [ Orphanet:464 ]
Synonyms: Incontinentia pigmenti syndrome Bloch-Siemens syndrome incontinentia pigmenti Bloch-Sulzberger syndrome incontinentia pigmenti, X-linked dominant
Term information
- Wikipedia:Incongenita_pigmenti (EFO:1000672)
- UMLS:C0022283 (Orphanet:464)
- EFO:1000672 (MONDO:equivalentTo)
- DOID:12305 (MONDO:equivalentTo)
- OMIM:308300 (Orphanet:464/e)
- UMLS:C0021171 (Orphanet:464)
- NORD:1300 (MONDO:NORD)
- GARD:6778 (Orphanet:464)
- MESH:D007184 (Orphanet:464/e)
- SCTID:367520004 (MONDO:equivalentTo)
- NCIT:C84787 (MONDO:equivalentTo)
- Orphanet:464 (OMIM:308300)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
http://www.orpha.net/ORDO/Orphanet_464
http://identifiers.org/snomedct/367520004
http://linkedlifedata.com/resource/umls/id/C0021171
https://omim.org/entry/308300
http://purl.obolibrary.org/obo/NCIT_C84787
http://purl.obolibrary.org/obo/DOID_12305
http://identifiers.org/mesh/D007184
http://purl.obolibrary.org/obo/MONDO_0020119
http://purl.obolibrary.org/obo/MONDO_0020174
Incontinentia pigmenti type 2 (formerly)
Incontinentia pigmenti, familial Male-lethal type
Incontinentia pigmenti, type II
IP
IP2 (formerly)
Incontinentia pigmenti, type II, formerly